Pruritic wrinkling of the palmar skin following brief contact with water, aka aquagenic
wrinkling of the palms (AW), has been repeatedly described as a clinical manifestation
of cystic fibrosis (CF), the most frequent severe autosomal recessive disease in caucasians.
AW has been reported also in individuals where a single mutation of the gene responsible
for CF (CF Transmembrane Regulator, CFTR) had been detected. A study on a small population
reported a 1 in 4 frequency of AW among carriers [
[1]
,
[2]
], and it has been suggested that this dermatological manifestation is a signal of
CF carriership [
- Weibel L.
- Spinas R.
Images in clinical medicine. Aquagenic wrinkling of palms in cystic fibrosis.
N. Engl. J. Med. 2012; 366e32https://doi.org/10.1056/NEJMicm1103833
[3]
]. Little information is generally provided on heterozygotes with AW and apparently
a sweat test or a careful interview on minor clinical manifestations compatible with
mild forms of CF were not performed. Importantly, the extent of genetic analysis is
not stated and it is unclear if the whole gene was sequenced.Keywords
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References
- Aquagenic wrinkling of the palms in cystic fibrosis and the cystic fibrosis carrier state: a case–control study.Br. J. Dermatol. 2010; 163: 1082-1084https://doi.org/10.1111/j.1365-2133.2010.09914.x
- Images in clinical medicine. Aquagenic wrinkling of palms in cystic fibrosis.N. Engl. J. Med. 2012; 366e32https://doi.org/10.1056/NEJMicm1103833
- Aquagenic wrinkling of the palms: a diagnostic clue to cystic fibrosis carrier status and non-classic disease.Lancet. 2017; 389: 846https://doi.org/10.1016/S0140-6736(16)31636-1
- The prevalence of cystic fibrosis in the European Union.J. Cyst. Fibros. 2008; 7: 450-453https://doi.org/10.1016/j.jcf.2008.03.007
- A pilot survey of cystic fibrosis clinical manifestations in CFTR mutation heterozygotes.Genet. Test. 2001; 5: 249-254https://doi.org/10.1089/10906570152742317
- Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials.Am. J. Respir. Crit. Care Med. 2006; 174: 787-794https://doi.org/10.1164/rccm.200509-1377OC
- Aquagenic wrinkling of the palms in a patient with cystic fibrosis.N. Engl. J. Med. 2013; 369: 2362-2363https://doi.org/10.1056/NEJMc1308349
- Recommendations for the classification of diseases as CFTR-related disorders.J. Cyst. Fibros. 2011; 10: S86-102https://doi.org/10.1016/S1569-1993(11)60014-3
Article info
Publication history
Published online: September 20, 2018
Accepted:
September 11,
2018
Received:
September 6,
2018
Identification
Copyright
© 2018 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.
